How a Rare Diagnosis Impacts a Family

Jon and Shirley Dicks’ daughter Elle first started developing problems swallowing when she turned 10 months old. As her difficulty eating progressed, she stopped growing. Her parents grew frustrated by doctors dismissing her symptoms until a passing comment that she seemed to have a sensitivity to light allowed a specialist to diagnose her with the rare, lysosomal storage disorder cystinosis. We spoke to the Dicks about Elle’s diagnostic odyssey, how having a diagnosis changed care for her, and the challenges they have faced caring for a child with a rare condition.

Daniel Levine: Jon, Shirley. Thanks for joining us.

Shirley Dicks: Thank you for having us.

Jon Dicks: Thanks, Danny.

Daniel Levine: We’re going to talk about your daughter Elle, cystinosis, and what living with this condition has meant for you as a family. I’d like to start when Elle was around 10 months old and she began having problems swallowing. Shirley, what happened?

Shirley Dicks: Around 10 months old, Elle actually got a stomach bug and was sick for a few days. We noticed after she recovered from that stomach bug that when we presented table food to her, she didn’t really swallow it. She just kind of chewed it up and spit it out or kind of played in it. And she would eat, she did eat, it was very minimal amounts, like she would eat a little, a few bites of yogurt and a few bites of hummus, and that was about it. She really didn’t swallow any food that was given to her.

Daniel Levine: It was after her 15-month appointment that things started to change. What happened then? When did you realize that there was something more serious going on?

Shirley Dicks: At her 15-month appointment, the doctor noticed that she had not grown any in height nor had she gained any weight in comparison to her 12-month appointment. She was not growing. She was not going up on the scale or on the curve. I did point out to the doctor that she still was having difficulty swallowing food and that she really wasn’t interested in eating much. She was still only taking little bites of hummus and yogurt here and there and she was still spinning out a lot of her food. So, I did ask for a referral for therapy and I did get that referral. We started feeding therapy and we were also sent to a nutritionist who basically told us that we needed to get more calories in her to help her grow. And she just gave us a few recipes of different smoothies and things to try to get her to eat and get some more calories in her.

Daniel Levine: Jon, at the time you were working as an emergency department clinical care RN in a level one trauma center. As someone who works in a serious medical environment, what was going on in your mind? How good a handle on the situation did you think the doctors had?

Jon Dicks: I mean, that’s a very good question. I think that from the work, at that point in time I had been in the emergency department for about four years. And one of the things that we do really well in the emergency department is really know when to get worried. That was one of the hardest parts of this—that we were very, very worried and it seemed like we were the only ones that were that worried. It was, a very blasé attitude to what we felt like was a little girl that was kind of wasting away right in front of us, as evidenced by the plan of care that they had in place. I mean, they were kind of the elephant in the room that she didn’t swallow anything other than breast milk, small amounts of food, and a ton of water.

So right off the jump, when they came back to us with, “Hey, here’s this really, really thick smoothie and have her drink this,” you just kind of cock your head, like that puppy look, and you’re just like, “Did you not hear anything that we were talking about?” And it really made it clear that we were going to have to really try to steer where this was going to go because, and to be honest with you, Dan, at that point in time, we really didn’t know where this was going, but we certainly knew that this was more than just an aversion of food or just a, a finicky or picky eater, uh, the way they kind of portrayed Elle to be.

Daniel Levine: Her health continued to worsen. There was a call you got from a resident in the emergency department of the local children’s hospital. When did that happen? And what happened with that call?

Shirley Dicks: We ended up getting that call because we had to follow up with our pediatrician at 18 months. And at 18 months she had actually lost some weight. So, she referred us to get blood work done through endocrinology. We went and got the blood work done. But prior to that, we also got sent to the feeding team at the hospital to check her out and see where things were going, and they also said it was neutral, so we just needed to get more calories and her. After that we went to see the endocrinologist. She did several tests, thyroid, diabetes, because we were saying how much she was drinking water, chugging it, wanting it all the time. She was sweating at night, like soaking through. So she got the blood work done. And I received a call while I was at work that day and the first thing the doctor said was, “Are you sitting down?” I said, no, but I can; I’m at work. And she said, “You’re going to need to bring Elle in right away. Her labs are very concerning. She’s very dehydrated and we need to get her back in and do some more blood work.” She’s like, “And you need the pocket bag to be ready to be admitted.” So, I immediately left work right away or ran home to get Elle, got a hold of Jon, and we packed a bag and I went back to the hospital that day, got more lab work done. Same thing showed up—she was very dehydrated. They were very concerned about her labs; her electrolytes were pretty much bottomed out. So, we got admitted that night to the hospital and that night they placed an NG tube down her nose and throat immediately once we got into a room because they said she needed nutrition and she needed it quickly,

Daniel Levine: She’s got this NG tube. She’s constantly pleading for water. The doctor at the time tells you that this constant demand for water is behavioral, which is kind of mind blowing to think. But at that point, Jon, you demanded she be discharged. Why and what happened?

Jon Dicks: Yeah, obviously it’s a lived experience and I talked with Shirley and from my standpoint, we weren’t really, the interventions that they were doing was really just to monitor. They really didn’t have an understanding on why. Every time we asked them, “Why is she drinking so much water? And why is she so dehydrated?” you got answers like, well, sometimes we just don’t know why kids don’t want to eat or don’t want to drink. So, I felt like if that was going to be the answer, then we can certainly do this in a place that’s less intimidating, that has less beeping noises, that my daughter can actually get some sleep.

I think one of the benefits here is that I know how the hospital system works and I, and I kind of know how to push things a little bit. So, I made it very, very clear that we were not going to be spending any more time in here; that from what they were doing from our standpoint was something that we could do at home. As an emergency department nurse, an NG tube is not uncommon to see. You see people in the emergency department when they’re in their worst state, right? We don’t discriminate on who comes there. So, if somebody is having a very, very bad panic attack, but happens to have an NG tube, I’m expected to understand how to use that. So, none of that was really scary for us. And I felt like in the home setting, it would just be much better for Elle. So, we demanded the discharge and they honored that request with the stipulation that we follow up with the team of doctors to which, of course, we were agreeable.

Daniel Levine: And how has her health progressing at this point? At what point did she progress to a gastric tube?

Shirley Dicks: So, she actually really struggled with the NG tube. Every time they pushed a formula threw it, or we pushed a formula into it, she threw up, she was constantly throwing up. She still wasn’t gaining any weight. They were trying all sorts of different formulas, trying to push all sorts of different stuff to get her nutrition and nothing seemed to be working. She probably had that NG tube for, I think, eight months.

Jon Dicks: Yeah, she had it for eight months. I’ll be honest with you, that was a very, very dark time for us because, you get the NG tube in and you say to yourself, “Okay, we’ve got this route to get nutrition in.” But the elephant in the room from my standpoint was just that we still didn’t understand what was causing this. So, we were being very, very reactionary with everything and that reaction wasn’t working. The reaction to her not eating was let’s put the NG tube then. And, you know, when I say like cyclical vomiting, in the medical terminology what that means is vomiting, you know, in excess of 10 times in a day, Elle was probably throwing up closer to 25 to 30 times a day, dry heaving, just could not keep anything down. As a father, the look of terror in your child’s eyes when she’s actually gagging back up the NG tube, and you’re watching this tube come out of her nose and you’ve got to push it back in, you know, that’s something that sits with me a lot, and unfortunately, we kind of dragged our feet on that to get her progressed to a G-tube. And I think it was just wanting to believe that everything was okay, and this was just a finicky little eater, but the writing was on the wall, and we probably had that NG tube in probably about eight months, too long to be honest with you. In hindsight, and obviously hindsight being perfect vision, we should have just gone for the G-tube right then and there. I think had we had the diagnosis then we obviously would have gone to the G-tube. But it still haunts me to this day about the kind of lasting trauma that we put her through, the unnecessary trauma that we put her through there. I think that the 50,000-foot view is that we’re doing all this, but we still don’t have a real diagnosis and she’s just continuing to get smaller.

Daniel Levine: And how old is Elle at this point?

Shirley Dicks: She’s six years old right now.

Daniel Levine: No, I’m sorry. When she had the gastric tube for six months.

Shirley Dicks: Yeah. When did she get that tube? Jon, do you happen to remember? I can’t even remember when she got it. She was two and a half, I believe. Yeah, because I remember she still had pictures on her second birthday of the NG tube.

Daniel Levine: You’ve been going through this ordeal for 18 months, two years at that point. What kind of a stress is that on you as care givers? Are you still trying to hold a job down at the same time or do you have any support from other family members?

Shirley Dicks: So, it was actually a very, very stressful time. I ended up going part-time because it was just so hard to get anything in her and she just kept losing weight, and it was a lot of commitment and responsibility to put on someone else to care for her, especially with the NG tube. So, my job was very understanding and I was able to find a job share partner where I could end up working two to three days a week, and I actually still to this day continue to do that because she was needing so much out with the NG tube and we were having so many appointments and we were just really, really struggling to keep her healthy, and to figure out what was going on. So I did end up having to go part-time for that reason.

Jon Dicks: Yeah. And I kept full-time in the ER. I think there’s probably a lot of reasons for that, obviously from a financial standpoint, we were quickly finding that our deductible went away like that. Right. So, at that first hospital stay, we had our deductible met for the entire year. Obviously, there’s a financial strain that brings on the family and with that comes a lot of stress. For me personally, in the ER, I was finding it more and more difficult to give all of myself to these patients when I was crumbling on the inside myself. There was very, very little time as far as any time for Shirley just to be quiet with each other. That was just kind of non-existent, it was just you put out one fire and then the next one kind of pops up. It’s one of those things where at least right now what we were understanding was that the minute we felt like we had one thing figured out that there was something else going on and it’s all consuming. How do you bargain time with somebody that needs everything from you and is just pleading for someone to be an advocate for them? And so, our relationship definitely was rocky. I mean, there was a lot of times where we were just so off and angry and, you know, you try not to let any cynicism creep into it, but really we were dealing with people that at a point in time were kind of covering their eyes and throwing the spaghetti at the wall to see what would stick and they have all these great ideas and these wonderful plans on paper, but then when you go home, the entire thing just blows up and it’s something to be said in the rare disease community in the chronic disease community, you can’t ignore how much that affects the family unit and the family life.

And I think we’re doing so well right now it’s only because we recognize that that was something that we had to really work at. Do we do a great job at it, sometimes. Right. But the reality of the situation was at that acute time, man, there were some very, very quiet terse moments. To be honest with you, I wasn’t sure whether or not we were going to be able to get through it because it was just so much stress. Thank God we did. But, yeah, that’s a very good question. It was a hard dark two years, two to three years there.

Daniel Levine: You were finally pointed to a pediatric endocrinologist. How did you come to see an endocrinologist? And when was that and this progress?

Shirley Dicks: When Elle turned three years old, she still only weighed 20 pounds. So, she still hadn’t gained much from the time we started seeing doctors until she was three, and then that summer she had only gained a few more ounces. At that point at our follow-up visit in August, the GI doctor at the time said, “Hey, look, I feel like I’m failing you. She’s still not growing. We’re not getting anywhere. You guys have done all the leg work, any progress she has made it’s because of you guys.” He said, “I think you either need to go see a genetics doctor again, or another endocrinologist.” So, we decided to go see an endocrinologist. We actually had a recommendation made by a family member of an endocrinologist that specialized in growth issues. We made it a point that we wanted to see that particular endocrinologist, the downfall to it was he was actually out on medical leave for like two or three months. So, it was going to take some time to get in to see him. But Jon and I talked and we said, if he specializes in growth issues, then he’s going to be worth the wait if someone can give us some answers. So we did, we got to see him in October. I think it was October 10th when we got to finally have our appointment with him.

Daniel Levine: And Jon, you seemed to casually mention that she seemed to have an aversion to sunlight. Is that right?

Jon Dicks: Yeah. Yeah, absolutely. That’s actually funny that you said that. When we saw the endocrinologist, I’ll be honest, when we walked in the room, we knew that something was different here, namely, because we weren’t the only ones that were really, really, really worried. I remember it so clearly, he took his little wire rimmed glasses off and he said, “Jonathan, Shirley, I’m really, really concerned about Eleanor. I’m very concerned about Eleanor.” He just didn’t mince any words there and he went through his reasoning on what was going on and we kind of talked and we talked about the feeding issues and he looked at her and he noticed that her cheeks were a little bit swollen, it looked like she was holding a little fluid to him.

Of course, to us like the normalcy bias there just kind of takes all that away because you see it every single day and you don’t think anything’s really that wrong, but this fresh set of eyes, I mean, he was like a hawk. He was right on it. And everything about his energy just told me I needed to just listen to this guy and see what he has to say. So, we kind of talked through this and I remember it very clearly, the nurses there, where they were going to do a blood draw. We were getting Elle prepped for that and we did a good job of letting her understand what that looks like. And she had been through a lot anyway with the pricks and all this stuff. The nurses were like, what do you need? You know, you need like a cup to maybe, or a hat, right. You can go to the bathroom and pee in this hat. We need a little urine. And the joke was that she had been potty trained for like a year and a half before that because of how frequently she had to go to the bathroom. And so, there’s this little girl that looks even smaller than she actually is because the kidney disease has affected her at that point in time. It just blew everybody away. And she just looked up and she was like, “No I can be on the toilet. I’ll pee in the cup.” So, with Shirley’s help, they left the room and that’s when the endocrinologist and I were in there by ourselves.

And we were talking about it. And to your question, there had been this nagging thing that had always been an issue with Eleanor. And it was something that just seemed so odd to me. And so, I said to him, “You know, doc, I don’t know if this has anything, I don’t know if this is everything, but I feel like Eleanor has this weird aversion to sunlight. And I mean, really, really weird aversion of the sunlight.” And I’ll never forget it. The color in his face dropped out. He looked right at me and he said, “you said this, not me. You said that.” Right. And I was like, yeah, I said that. And I at first was kind of taken aback because I thought I said something wrong. I thought maybe there was something where I overstepped my balance. I didn’t know. And right as I was kind of looking at them a little odd, like what’s going on here surely, and I walk back in. And he explained to me what one of the telltale symptoms of cystinosis is, and it is photophobia or an aversion to light, sunlight, any sort of light. As Elle was growing up, she always preferred a rainy day with puddles over sunlight. Sometimes, it was like, “Mom, can you turn the lights off in the house or wearing sunglasses inside?” And so, for him that was really kind of his confirmatory diagnosis. I think when we left the office that day, we had a very, very clear understanding of what we thought was going on. That’s for sure.

Daniel Levine: At what point did you get a confirmed diagnosis and what was it like? Do you have a name to put to this condition?

Jon Dicks: The way the hospital system works is when you give that blood and something is coming down the right, so we understood that after giving the blood work, we were going to get a call from a very, very, very nervous resident that had never seen anything like this before, and like clockwork, later that night at about eight o’clock, we got a call that we have to get in there right now. This time around, rushing into the hospital wasn’t as panicked and wasn’t as dire straits, because we felt like there was actually a real path that we’re following now. You kind of feel like you’re on this boat in very, very choppy waters and, I’ll be honest, it’s a storm, right? There’s a storm going on and you have no compass and you’re closer to the shore and there’s no lighthouse. So, what that diagnosis did for us, and we got the confirmed diagnosis later on, when we came into the hospital that night and the next couple of days that we were there, it meant everything. It’s like all of a sudden you have direction and you forget just how necessary it is to have a point to get to and then just a way to try to get there—a compass to try to navigate these crazy waters that we’re in. For the first time it was like, okay, we’re actually going to start trying to do some things to actually help Elle, to actually help the symptoms that she has, to help her with whatever’s going on right now.

Later on, we learned that everything that she was going through was because at that point in time her kidneys were starting to fail. and she had what they would call in the hospital metabolic acidosis, but it’s a symptom of cystinosis and essentially it makes these kids feel like they’re breathing under water. And I can remember so many times have little moments in my mind, kind of thinking back to when I was bathing her and she would suck the water out of the washcloth—these heartbreaking moments of where she’s trying, without words, trying to give us like, “hey, this is what’s going on. Help me, help me,” you know? And finally having that diagnosis it reminds you. Just getting the diagnosis started the whole thing. And it’s like the actual hard work actually started then because I think there’s a misnomer that once you get a diagnosis, everything’s better. Well, you still have to get her to that point where she’s stable now. So just because we had the diagnosis didn’t mean that everything was fixed, but it meant everything to us. I mean, it was scary. You have that moment where you go home and you get on PubMed. At least I got on PubMed. I was a student at that point in time, so for me, that was very high level, but everybody else, what did they hop on—WebMD? You get on Google and you see these horrific stories and you, and you see the worst-case scenarios and you feel like, oh my God, what am I going to do? But after that panic kind of subsides, I think we were kind of galvanized in fire for the last three years before this, because we had our moment. But I sat down with Shirley and we both looked at each other in the eyes. We said that whatever happens, we are going to advocate for this little girl. We were going to do everything we can to give her the best care moving forward. And we’re not going to stop until we get this thing cured and that’s it. And so that was our plan. How to get there was all about compartmentalization. So, our big thing was, what’s the next best right step?

Daniel Levine: Well, for listeners not familiar with cystinosis, what is it, how does it manifest itself and progress?

Jon Dicks: I could get really medical on the jargon, but I don’t think that that’s what this is about. It’s a rare, a very rare, you could probably classify it as an ultra-rare genetic disease, and there’s only 2000, children, actually 2000 people worldwide that have this. It’s a lysosomal storage disease. The way it was described to me, and the way I remembered in nursing school, the lysosome is like the trash compactor of the cell. And in this patient population, they have a genetic mutation on this little CTMS gene, all it means re is that there’s this tiny little mutation. What that means is that the person taking out the trash forgets to take out this one piece of trash, they take out everything else, but they don’t take out this one piece of trash. And that piece of trash that’s left over, it’s called cystine, and they form crystals in the body. Crystals are great in rings, they’re awesome outside of the body, but inside of the body they play havoc because they’re sharp and they don’t look like a cell and they cut through everything and they end up just creating a ton of havoc. So, in this patient population, the cystine crystals accumulate everywhere there is mitochondria or a cell, and there’s not one part of the body that isn’t affected: the kidneys, the eyes, the muscles; you get myopathies as well. I think the best way to describe it, the way that I think about it, is it’s like this octopus, right? I came up with the octopus because I was trying to think of something that has more arms than me, more arms than me and my wife combined. And that’s what it’s about. It’s like the minute you think you have a little piece of this disease fixed, the other arm part starts creeping up and starts talking about, oh, well, yeah, you’ve got the kidney issues fixed, but, what are you going to do about the eyesight? And that’s the other big thing here. And, like I said before that the kidneys are the windows to the soul, the true rule-out scan to say this is the cystinosis is something called a Slit Lamp Test. The BI docs come in and they shine a very specialized type of light and what you’ll see in these kids is that the back of their eyes have a certain shimmer to them. And that’s the cystine crystals that deposit in the cornea. Before there was any treatment for this, and I have to be honest, the outlook to this was very bleak and a lot of kids that were born with this just 50, 60 years ago didn’t make it past the age of 20. I can remember reading stories like that. Unfortunately we did have a run in with an overaggressive resident that basically made a comment that was just like, we’ll be lucky, we’ll be very surprised if she makes it to XXX this amount of age. And I was just blown away by it. You know, it’s very, very hard to hear someone talk about your daughter as a case. That was one of the things that you have to do a lot in the rare disease community is you have to remind people that this isn’t a case number. This isn’t an MRN number. This is actually a real person who has dreams and wishes and hopes and fears. And that was one of the things that we really worked on, worked hard on: making sure that people understand the person behind this disease is really the important part of this, not the disease.

It was a lot to take in and learning about cystinosis and moving forward was really kind of a life’s passion. It was something that I put to myself to try to understand as much as I could. So, I utilized everything I could, as far as my academic sources, my academic resources, the other physicians that are around me. I asked a lot of questions and just really surrounded myself with as much material and evidence as I could to try to make the next best step.

Daniel Levine: You found your way to a cystinosis center of excellence in California eventually. What has that meant for Elle’s care and her health today?

Jon Dicks: What really was the driving factor in that was the fact that we had for the first time at our institution where we were at, we had a team that was on board that was the correct team that was on board, right. It’s not to say that the GI docs or the tummy docs weren’t important there; it’s just that they shouldn’t be steering the ship. Once we had the nephrologist on board and the endocrinologist, we really had the two captains at the helm that were really steering this thing to make things better.

Shirley Dicks: We found the doctor in California after we found a couple of the cystinosis support groups, and someone recommended to go out to see him, to kind of get Elle situated, because even after her diagnosis, we were still struggling with her electrolyte balance, getting that figured out, and she was still throwing up a ton. And our team of nephrologists was new to this diagnosis so they were still trying to figure things out and how to help Eleanor as well. They were actually on board with us going to see the nephrologists out in California and actually had connected with them through email and things, and still continue to this day when we have questions that we can’t quite figure out. So, when we went out to California, it was actually myself, Elle, and at that time, Finley, because I was pregnant when we got Elle’s diagnosis—he was only three months old. We went out there to speak with him and he went over I think he said Elle had a thousand pages of medical reports. He went through every single bit of it and he helped lead us on next steps to help get Eleanor through these next few months to try and get everything balanced out. He recommended some things as far as feeding and medication administration and other medications to try, so we brought that back to the doctor and he connected with our doctor as well, and we got all those things put in place. And once we got those things put in place, then we finally started seeing some stability in Elle.

Daniel Levine: What has that meant for her health?

Shirley Dicks: I’m not going to lie, these first few years of diagnosis have been extremely hard, especially the first year, because it is literally a balancing act. She was going in for blood work pretty much like once a week. And then we would eventually get to once every two weeks, once a month, but it was a lot of blood work because you have to find the right dose of medication for her to balance her electrolytes out and to get persisting levels below where they need to be. The medication makes her very sick so it has to be done in small increments until her body can handle it. It takes a lot of time. I mean, it took months, months. It could have been even up to a year that Elle was able to handle the amount of medicine that she needed without feeling so sick. And even to this day, anytime that we have to increase medication, which you do every time they grow or gain weight, she still struggles, so we always have to do it in very small increments over an extended number of days before we can get her up to her new dose. She’s now six years old and she is actually very stable. She is in stage 3 kidney failure. We found that out pretty much right after diagnosis when we were admitted to the hospital, so that is something we have to keep a close eye on.

Daniel Levine: Yeah, forgive me. What is stage three kidney failure. So,

Jon Dicks: There’s certain benchmarks that you would see as far as the filtration rate of what the kidneys put out and they give you a rating scale on how to go and where at the time of diagnosis. Unfortunately, because of the two and a half years of misdiagnosis of her, of her being in metabolic acidosis like that, and being in such a harsh environment without the cystine crystals reducing therapy on board, it got her to the appointment. And right now it usually means stage 3 is roughly right around a little bit less than 50 percent kidney function in both kidneys, the right and left are almost the same. One’s a little bit better than the other but you can’t deny the fact that it is a very aggressive stage of kidney failure for her age, right? At six years old being in stage 3, the writing on the wall there is going to mean that Elle is going to need to have a kidney transplant much earlier than she would have had it had she been diagnosed as most kids are right around the first year of life—usually about nine months to about 12 months is the kind of the standard, the average of what it looks like. Elle was past three years when she got her diagnosis, so the direct causality there and what you see there is the lowered kidney functioning.

Daniel Levine: You mentioned you had another child since. What’s day-to-day life now caring for Elle, doing your job, managing finances? Have things settled into a routine? Is it something that you get more help with? Or how do you manage all that?

Jon Dicks: Well, we have gotten very adept at finding our tribe, finding the people that we can really, really count on. It stands to reason that when bad things happen, you kind of find out who your real people are when the ship’s going down and some people are the ones that we knew were going to be there. And some people, we didn’t think that we would get this level of help from, and commitment from, the day-to-day life, everything kind of goes on, the big thing. And for anybody out there listening, Finley, our son, does not have cystinosis and is not a carrier for cystinosis either. When Elle was diagnosed, Shirley was six months pregnant. And you can kind of imagine what that looked like for the last three months of that pregnancy. But by the grace of God, we got really, really good news there and Finley is a wonderful little boy who just adores his big sister. It’s interesting, we say big sister, but he’s probably a little bit bigger than her now and he’s two. But the day-to-day interaction there is that he sees everything that we do with Elle, he understands what else is happening with her. As far as the day-to-day stuff, Shirley’s still working part-time, I myself decided that I was going to get out of the ER and have since finished all of my work to become a nurse practitioner. From that standpoint, I’ll sit for the family nurse practitioner exam probably in December of this year. Right now, I own and run a personal training, fitness coaching business. The time spent there is a little bit different now. I just really realized that I couldn’t do that level of care for people with what was going on with Eleanor and I had to be very honest with myself that I was really running myself into a big pit of depression, and we all kind of pulled ourselves out doing what we knew we needed to do, and that’s just surround ourselves with really, really good people. We know that the bills are always going to be there. Every month, somehow, we figured out a way to make it happen, with the faith and the knowledge that if we keep on doing the next best thing, that good things are going to come. Our driving goal here is always just to try to make sure that we reduce any undue stress on Eleanor as much as we can.

Daniel Levine: I imagine the whole diagnostic odyssey for you was very isolating. What’s it like now to have become a member of a community around this condition?

Jon Dicks: It means everything. And it’s not even a new thing. When before you know it, there’s a community of people out there that understand the same thing. Like when you find someone that understands what it means to get popped in the face with a G-tube with the medication that you’re pushing, like, you really don’t know. Right? I mean, you can talk about this kind of anecdotally, and you’d be like, oh yeah, the G-tube popped on me. But then when you’re dealing with a family that actually has a son or daughter with a G-tube, somebody that is presenting the same way, someone that understands kind of what that cyclical vomiting looks like, and what fractured sleep is like what

Shirley Dicks: Medication

Jon Dicks: Right, right. You know, the weird alarms that go off six times a day, and people are like, what’s that for? It’s just like you found your home and you realize that you can really utilize that home, that second home as a source for an abundance of strength. You see other people that have gotten through this, you meet other people that are in their 20s, 30s, 40s, 50s, and you’re filled with this hope because as a father one of the things that always gets me really choked up is the thought of possibly not being able to walk my daughter down the aisle, right? This crazy thought that somehow, I would outlive my daughter and then you see that there is life after cystinosis. Obviously, it’s a through line and it drives all the decisions that you make, but there is a way through this. And I remember when I finally got to talk to some parents that that was the big message then said, “you know what you’re embarking on is some of the hardest stuff you’re ever going to be going through the diagnosis. This early part is going to be hellacious, but if you can get through that and if you can get through it together, it’s worth it and it gets much better.” And while it’s light years away from the normal that you had before, what we realize is that we’re dealing with a new normal now. And so that’s the way we approach it. Now, our life is not like most, but it’s wildly fulfilling and wildly rich. And we laugh a lot. We cry at times too, but we do it together.

Daniel Levine: And has the experience put you into the world of advocacy at all?

Jon Dicks: Yeah, actually it has. I, I remember when Elle was diagnosed, I looked at Shirley and I said, you know, I’m going to learn everything I can about this. I’m going to do whatever I can to be the change that I want to see And I really did want to see a lot of change at that time, because I was dealing with a daughter at that point in time, what I felt like was going through undue stress because the teams were very myopic in their approach and they didn’t connect those dots. So, what I wanted to do is I wanted to figure out how do I speak for Eleanor and speak for all these other kiddos around me that are undoubtedly going to be coming behind? How do I help them? So, initially what we did is I went to my first cystinosis research network conference and that was in Philadelphia. We went to Philadelphia and our minds were blown. Shirley would agree. It was incredible.

Shirley Dicks: It was the best thing we could have done at that time for our family. We were only, I think, six months post diagnosis. And, luckily this conference was being held that summer and it was definitely the best thing we could’ve done for our family to be there with a group of families who have been through or going through the same thing. They just shared so much knowledge, so much love, and we made so many connections. Jon made a ton of connections. He really was able to reach out and meet a lot of people there. It was absolutely amazing.

Jon Dicks: It was from that conference that I found out that there was the ability to go down to Washington DC for Rare Disease Day. I had no idea that this was even a thing. I was able to get down there as the representative for my district in Ohio where I’m from. I was there and I came with a plan and I was able to sit down with my congressmen and women and senator as well. And it was just like the world kind of opened up from there. I realized that the advocacy that I could do is much, much, much more than what I thought. Out of that advocacy there, and then the incredible experience that I had at the conference, I was actually asked to come on and voted onto, the executive committee of the CRN. And I’ve been on as the VP of development for the last year. So,o I took that advocacy and I really, really ran with it. It’s an incredible position. It really allowed me to speak to other families, which was something that I really, really wanted to do. I felt like, what I really needed in those dark times with somebody who understood what I was going through and was able to kind of help me work through it and work through some of the things and some of the nuanced stuff that kind of comes out of a new diagnosis. Right? So, it was a wonderful opportunity for me to be able to meet with industry professionals, to really get my head wrapped around the research. You want to do things that directly affect the community so being in charge of research advocacy, of working on securing financial assets for these incredible doctors who are doing incredible work around the country and around the world, was amazing. And I really fell into the role. About a month ago, I was asked to come on board as the president of the CRN. So, right now I’m the acting VP of development, and then I’ll also be taking over as the president of the CRN. So, I definitely am advocating that’s for sure.

Daniel Levine: How’s Elle doing today?

Shirley Dicks: She is doing very well. We actually got bumped to six months nephrology appointments. That’s how well she’s been. She’s been stable and everything’s looking well. We still do go for 3-month blood work just to make sure we don’t have to make any tweaks or if we do have to make any tweaks in her medication. The only big change is we’ve had to add a urologist on board and now she has to have a kidney scan every three months, just to keep track of her kidneys and make sure they’re filtering out okay and not slowing down even more. We’re keeping a closer eye on that. But as long as everything stays okay with that, she will just continue to have kidney scans every three months. And her nephrology appointments will stay every six months along with our ophthalmology appointments, our eye appointments. So far, she’s been healthy and we started homeschooling. She’s kind of enjoying that. I guess it’s a new thing for her. We’re still getting in the groove of that, but she has tons of energy to be outside, still in the rain. She loves her bugs. She loves playing with cousins and friends. So, we’re very, very happy and very pleased with how well she is doing

Daniel Levine: Jon and Shirley Dicks, parents of Elle with childhood cystinosis. Jon, Shirley, thanks so much for your time today.

Shirley Dicks: Thank you so much.

This transcript has been edited for clarity and readability.